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A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α‐fucosidase gene
Author(s) -
Fleming C. J.,
Sinclair D. U.,
White E. J.,
Winchester B.,
Whiteford M. L.,
Connor J. M.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005405222252
Subject(s) - missense mutation , citation , exon , genetics , mutation , white (mutation) , philosophy , gene , biology , library science , computer science